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rs121909731

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909731(C;T)
Make rs121909731(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87057692
GeneGLUD1
is asnp
is mentioned by
dbSNPrs121909731
ebirs121909731
HLIrs121909731
Exacrs121909731
Varsomers121909731
Maprs121909731
PheGenIrs121909731
hapmaprs121909731
1000 genomesrs121909731
hgdprs121909731
ensemblrs121909731
gopubmedrs121909731
geneviewrs121909731
scholarrs121909731
googlers121909731
pharmgkbrs121909731
gwascentralrs121909731
openSNPrs121909731
23andMers121909731
23andMe allrs121909731
SNP Nexus

SNPshotrs121909731
SNPdbers121909731
MSV3drs121909731
GWAS Ctlgrs121909731
Max Magnitude0
OMIM138130
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909731(G,T;G,T)
Alt rs121909731(G,T;G,T)
Reference rs121909731(C;C)
Significance Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome not provided
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome not provided
Reversed 1
HGVS NC_000010.10:g.88817449G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017502.28, RCV000185923.2,